[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"leadSponsorName\":\"Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)\",\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:":637},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,24,0,[8,45,75,101,129,158,187,214,239,263,289,313,336,361,384,409,435,460,487,512,536,557,584,613],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":13,"acronym":4,"eligibilityCriteria":14,"healthyVolunteers":15,"sex":16,"minAge":17,"maxAge":18,"enrollmentInfo":19,"targetDuration":4,"studyType":22,"phases":23,"briefSummary":25,"conditions":26,"keywords":28,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":33,"lastUpdatePostDateStruct":34,"startDateStruct":37,"completionDateStruct":39,"leadSponsor":41,"locationsCount":44},"100581549","phase-3-hormone-replacement-therapy-in-adolescents-with-premature-ovarian-insufficiency-100581549",false,"NCT06851754","Hormone Replacement Therapy in Adolescents With Premature Ovarian Insufficiency","* INCLUSION CRITERIA:\n\nInclusion Criteria for POI Participants\n\nTo be eligible to participate in this study, an individual must meet all the following criteria:\n\n1. Individuals aged 11-19 years, inclusive, at the time of enrollment.\n2. Diagnosis of premature ovarian insufficiency.\n3. Documentation of one elevated serum FSH measurement greater than the testing laboratory's upper reference range (for age\u002FTanner stage).\n4. Identify as female (i.e., sex assigned at birth)\n5. Negative pregnancy test.\n\nInclusion Criteria for Healthy Volunteers:\n\n1. Individuals aged 11-19 years.\n2. Identify as female (i.e., sex assigned at birth)\n3. Negative pregnancy test.\n4. Absence of known chronic disease\n\nEXCLUSION CRITERIA:\n\nMale participants are excluded from both study groups (POI and Healthy Volunteers) as POI affects only the female reproductive system, while pregnant participants are not eligible to have DXA or HRpQCT imaging for safety reasons.\n\nExclusion Criteria for POI participants:\n\nAn individual who meets any of the following criteria will be excluded from participation in this study:\n\n1. POI in the setting of Turner syndrome.\n2. Patients who screened positive for celiac disease.\n3. Receipt of any medications including HRT determined by the investigator to affect bone metabolism 3 months prior to enrollment.\n4. Any medical condition determined by the investigator to affect bone health will be excluded.\n5. Presence of a medical, psychiatric, or social condition which, in the opinion of the investigator, would place undue burden on the subject, NIH resources, or increase risk of participation.\n6. Report of sexual activity but refusal to use a copper intrauterine device or double barrier forms of contraception during the study.\n\nExclusion Criteria for Healthy Volunteers:\n\nFor healthy volunteers, all exclusion criteria will apply as for POI participants except for number 1.",true,"FEMALE","11 Years","19 Years",{"count":20,"type":21},185,"ESTIMATED","INTERVENTIONAL",[24],"PHASE3","Background:\n\nPremature ovarian insufficiency (POI) is a condition in which women under the age of 40 years have absent or irregular menstrual cycles. POI can cause infertility, signs of menopause, osteoporosis, and other symptoms. Hormone replacement therapy (HRT) is a treatment that gives women extra hormones, such as estrogen and progesterone. HRT works well in adult women. Researchers want to find the most effective doses and regimens for adolescents.\n\nObjective:\n\nTo monitor the effects of HRT on adolescents with POI.\n\nEligibility:\n\nFemale adolescents aged 11 to 19 years diagnosed with POI. Healthy volunteers are also needed.\n\nDesign:\n\nAll participants will have clinic visits every 6 months for 2 years. Each visit may last 2 days. Each visit may include:\n\nBlood and urine tests.\n\nA test of their heart function.\n\nA test to measure the stiffness of their blood vessels. Participants will lie flat with a blood pressure cuff on a leg and a meter on the neck while the cuff inflates.\n\nA test of their grip strength. Participants will squeeze a handheld device as hard as they can.\n\nTwo scans to measure bone density. For one, participants will lie on a table while a scanner passes along their body. For the other, participants will sit in a chair and insert their forearm, then their lower leg, into a scanner.\n\nA test to measure skin pigmentation. Participants' skin will be touched lightly with a device.\n\nAn optional visual exam of the vagina. Some vaginal fluid may also be collected with a cotton swab\u002Fcytobrush.\n\nParticipants with POI will receive HRT. They will be given estrogen patches and progesterone pills.",[27],"Premature Ovarian Insufficiency",[27,29,30,31],"Hormone Replacement Therapy","Adolescents","Bone Health","RECRUITING","2026-07-01",{"date":35,"type":36},"2026-07-02","ACTUAL",{"date":38,"type":36},"2025-07-17",{"date":40,"type":21},"2031-12-31",{"name":42,"class":43},"Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)","NIH",1,{"id":46,"slug":47,"hasResults":11,"nctId":48,"briefTitle":49,"officialTitle":50,"acronym":4,"eligibilityCriteria":51,"healthyVolunteers":15,"sex":52,"minAge":53,"maxAge":54,"enrollmentInfo":55,"targetDuration":4,"studyType":57,"phases":4,"briefSummary":58,"conditions":59,"keywords":63,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":33,"lastUpdatePostDateStruct":69,"startDateStruct":70,"completionDateStruct":72,"leadSponsor":74,"locationsCount":44},"100239105","children-s-growth-and-behavior-study-100239105","NCT02390765","Children s Growth and Behavior Study","Children's Growth and Behavior Study","* Eligibility Criteria for Parents\u002FGuardians of Child Participants:\n\nINCLUSION CRITERIA:\n\nParents\u002FGuardians will qualify if they meet the following criteria.\n\n1. Age \\>=18 years\n2. Have a child enrolled in this protocol (15-CH-0096).\n\nEXCLUSION CRITERIA:\n\nParents\u002FGuardians will be excluded for the following reasons:\n\n1. If their child is not eligible to participate in the study (see below)\n2. If they are believed by the medical study team to have a medical or psychiatric problem that will not allow them to complete study procedures safely (these will be determined on a case-by-case basis)\n\n   Eligibility Criteria for Child Participants:\n\n   INCLUSION CRITERIA:\n\n   Volunteers will qualify if they meet the following criteria.\n   * Age 8-17 years (NB: children may continue to participate as adults during follow-up).\n   * Weight, height and BMI \\>= 5th percentile for age and sex according to Centers for Disease Control and Prevention 2000 US standards.\n   * Cognitively capable of completing study procedures (FSIQ \\>= 70).\n   * Good general health based on a normal history and physical examination (with the exception of overweight and minor, well-controlled illnesses).\n\n   EXCLUSION CRITERIA:\n\n   Individuals will be excluded (and provided treatment referrals as needed) for the following reasons:\n   * History of major cardiovascular disease or any other serious obesity-related complication as assessed during history and physical exam. Individuals with untreated or major illnesses relating to the endocrine and\u002For cardiovascular systems are excluded because these illnesses will likely influence outcomes. Such obesity-related comorbidities include hypertension (defined by age- sex- and height- specific standards; and fasting hyperglycemia consistent with diabetes (fasting glucose \\> 126 mg\u002FdL).\n   * Presence of other major illnesses: renal, hepatic, gastrointestinal, most endocrinologic (e.g., Cushing syndrome, untreated hyper- or hypothyroidism), hematological problems or pulmonary disorders (other than asthma not requiring continuous medication). Non-serious medical illnesses, such as seasonal allergies, will be reviewed on a case-by-case basis.\n   * Regular use of any medication known to affect body weight or eating behavior (e.g., many medications prescribed for attention deficit hyperactivity disorder, or ADHD). Medication use for non-serious conditions (e.g., acne) will be considered on a case-by-case basis.\n   * Current pregnancy or a history of pregnancy. A negative pregnancy test before starting the study will be required for postmenarcheal girls.\n   * Current and regular use of tobacco products and\u002For alcohol.\n   * A significant reduction in weight during the past three months, for any reason, exceeding 5% of body weight.\n   * A history of significant or recent brain injury that may considerably influence performance on neurocognitive measures (i.e., any history of loss of consciousness \\>=30 minutes associated with a head injury, any history of memory loss or hospitalization associated with a head injury, or \\>=2 concussions within last year).\n   * Presence of any significant, full-threshold psychiatric disorder based on DSM criteria such as schizophrenia, bipolar disorder, alcohol or substance abuse, anorexia or bulimia nervosa, or any disorder that, in the opinion of the investigators, would impede competence or compliance or possibly hinder completion of the study. These individuals will not be permitted to enroll in the current study and will be referred for treatment. Individuals who present with other psychiatric disorders, including sub-threshold psychiatric disorders, will be permitted to enroll in the study. Sub-threshold psychiatric disorders include symptoms that do not meet diagnostic threshold based on the DSM criteria for mental disorders, but which are nevertheless significantly impairing or distressing. If, based on the opinion of the investigators, a participant requires treatment for his\u002Fher psychiatric symptoms, the individual will be referred for treatment. Participants who develop any psychiatric disorder or significant psychiatric symptoms at any follow-up assessment during the study will not be excluded, but will be provided with treatment referrals.\n   * Any other condition in the child or parents\u002Fguardians that, in the opinion of the investigators, would impede compliance or possibly hinder completion of the study (e.g., significant Learning Disorder).\n\n   Additional exclusions for (optional) stool sample collection include:\n\n   Stool Sample only:\n   * Diagnosis or history of inflammatory bowel disease, including ulcerative colitis or Crohn's disease, celiac sprue, irritable bowel syndrome, or other inflammatory disorders of the intestine.\n   * Diarrhea within 1 week prior to sampling.\n   * Antibiotic use within 4 weeks prior to sampling.\n\n   In addition, Experiments 1 and 2 have specific additional exclusions:\n\n   Experiment 1 only:\n   * Regular use of medications that could influence autonomic or endocrine functioning, including alpha and beta blockers, oral contraceptives, or prescription pain medication.\n   * Scoring as \"highly active\" on the International Physical Activity Questionnaire (due to decreased cortisol reactivity).\n\n   Experiment 2 only:\n   * Participants will be excluded if MRI and MEG is contraindicated (metal in\u002Fon body, braces, presence of non-organic \\[e.g., cochlear\\] implants or cerebral clips, permanent tattooed makeup or general tattoos that are recent and\u002For in a dangerous location on the body or made with colors whose content in iron cannot be definitely ruled out.\n   * Youth will be excluded if they are left-handed.\n\n   All participants will receive a written explanation of the purposes, procedures, and potential hazards of the study. Communication of this information and of the participant's assent as well as the consent of the parent or guardian will be documented in the medical record and copies of all signed documents given to each family. All participants will be informed of their right to withdraw from the study.","ALL","8 Years","100 Years",{"count":56,"type":21},1500,"OBSERVATIONAL","Background:\n\n\\- Studies show that many factors affect children's eating behavior and health. These include sleep, mood, thinking skills, and genetics. Studying children over time may identify children at higher risk for eating-related health concerns.\n\nObjective:\n\n\\- To understand how genes and environment influence eating behavior and health over time.\n\nEligibility:\n\n\\- Children ages 8-17 in good general health.\n\nDesign:\n\n* Screening visit 1: Medical history, physical exam, body measurements, and questions.\n* 14 days: Participants will wear a wrist monitor and answer smartphone prompts about eating and mood. They may give a stool sample.\n* Screening visit 2:\n* Body measurements.\n* Saliva, urine, and blood samples.\n* Heart tests.\n* Meals provided (after fasting overnight).\n* Questionnaires and interview.\n* Behavior, thinking, and exercise tests.\n* X-ray of left wrist and full body.\\\u003CTAB\\>\n* Some parents may have medical history, physical exam, and questions at screening visits. They may answer questions at the yearly visits.\n* Participants will have up to 6 yearly visits. They will give a urine sample and body measurements, and repeat the X-rays. They will have questions and behavior and thinking tasks. They may give stool samples. Visits will range from 3 to 8 hours.\n* Participants may choose to participate in other studies:\n* Stress and Hormones, 1 visit: While resting, participants will give saliva samples and have their heart monitored. Then they will do math. They will repeat the resting part, then do a computer task.\n* Brain Imaging, 2 visits: Twice, participants will perform tasks with a magnetic cone on their head then answer questions. Once, they will have an MRI, lying still in a scanner with a coil on their head. Before the first visit, participants will collect at-home saliva samples once a day for three days. During both visits, participants will perform tasks and answer questions that gauge their thinking skills and mood.\n* Experiment 3 (sleep\u002Ffatigue): Participants will complete 2 additional visits. During these visits, participants will complete a task on the computer for 2 hours, or watch a movie for two hours. After completion of the task\u002Fmovie, they will answer questions and be provided with food.\n\nParticipants will be compensated for the time and inconvenience involved with completing study procedures.\n\n...",[60,61,62],"Obesity","Eating Behaviors","Healthy Volunteers",[64,65,66,60,67,68],"Stress Response","Binge Eating","Eating Behavior","Disordered Eating","Natural History",{"date":35,"type":36},{"date":71,"type":36},"2015-04-21",{"date":73,"type":21},"2030-12-31",{"name":42,"class":43},{"id":76,"slug":77,"hasResults":11,"nctId":78,"briefTitle":79,"officialTitle":79,"acronym":4,"eligibilityCriteria":80,"healthyVolunteers":15,"sex":52,"minAge":81,"maxAge":82,"enrollmentInfo":83,"targetDuration":4,"studyType":57,"phases":4,"briefSummary":85,"conditions":86,"keywords":88,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":95,"lastUpdatePostDateStruct":96,"startDateStruct":98,"completionDateStruct":4,"leadSponsor":100,"locationsCount":44},"100083492","evaluation-of-biochemical-markers-and-clinical-investigation-of-niemann-pick-disease-type-c-100083492","NCT00344331","Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C","* INCLUSION CRITERIA:\n\nAffected Subjects\n\nThe following individuals may be enrolled as in this study:\n\n* All patients with a diagnosis of NPC, based on clinical presentation, biochemical, or molecular.\n* Both NPC1 and NPC2 patients.\n* Patients of any age\n* Males or females\n* Any ethnic background\n\nEXCLUSION CRITERIA:\n\nIndividuals will not be enrolled in this study if:\n\n* They cannot travel to the NIH because of their medical condition or are too ill to be cared for at home.\n* They have rapidly progressive neonatal cholestasis.\n* They are pregnant (a negative urine pregnancy test will be required for any menstruating female before participation in this study and at each NIH Clinical Center admission).\n\nUnaffected Subjects\n\nIndividuals may be enrolled for data and biospecimen collection if:\n\n* They are a known NPC1 or NPC2 heterozygote and consent to specimen collection (as specified in the protocol) from the carrier population.\n* There is no diagnosis or suspicion of NPC disease, and consent is provided to be included in the control or caregiver population.\n\nIndividuals will not be enrolled for biospecimen collection if:\n\n* Consent is not provided\n* They have a contraindication to the method of specimen collection\n\n  * Patients will be excluded from the MRI section of the study if they have a contraindication to MRI or if they do not meet the safety criteria established by the NIH Clinical Center radiology department for MRI scanning.","1 Day","120 Years",{"count":84,"type":21},900,"This study will evaluate clinical and laboratory tests that might be useful in determining if an investigational drug can slow the progression of Niemann-Pick Disease, Type C (NPC), a genetic disorder that results in progressive loss of nervous system function. The study will: 1) look for a clinical or biochemical marker that can be used as a measure of response to treatment, and 2) define the rate of progression of biochemical marker abnormalities in a group of NPC patients who will later be invited to enroll in a treatment trial.\n\nPatients of any age with NPC may be eligible for this study. Participants undergo the following procedures every 6 months during 4- to 5-day admissions at the NIH Clinical Center.\n\n* Medical evaluation, including medical history, physical exam, neurological exam, neuropsychometric evaluation, and blood and urine tests.\n* Lumbar puncture (spinal tap): A sample of cerebrospinal fluid (CSF), the fluid that bathes the brain and spinal cord, is obtained for study. After administration of a local anesthetic, a small needle is inserted in the space between the bones in the lower back where the CSF circulates below the spinal cord. A small amount of fluid is collected through the needle.\n* Eye exam and eye movement study: The pupils of the eye are dilated to examine the structures of the eyes. For the eye movement study a special contact lens is placed on the eye and the patient looks at a series of target light spots moving on a screen.\n* Hearing tests.\n* Electroretinography (in patients who can cooperate with the test) to measure the function of the retina. Before the test, the patient's pupils are dilated and an electrode (small silver disk) is taped to the forehead. The patient sits in a dark room for 30 minutes and then a special contact lens is placed on one eye after it has been numbed with drops. The contact lens senses small electrical signals generated by the retina when lights flash. During the ERG recording, the eye is stimulated with flashes of light projected inside a hollow sphere. After the test, a full eye exam is done and photographs of the retina are taken.\n* Magnetic resonance imaging (MRI): This test uses a magnetic field and radio waves to produce images of the brain and obtain information about brain chemicals. The patient lies on a table that can slide in and out of the scanner (a narrow cylinder), wearing earplugs to muffle loud knocking and thumping sounds that occur during the scanning process. Patients who cannot remain still in the scanner may be sedated for the test.\n* Psychometric testing: Patients complete questionnaires.\n* Photographs of the patient may be taken for use in teaching sessions or scientific presentations or publications, with the patient's consent. Patients may be recognizable, but are not identified by name.\n* Pregnancy test in all female patients over 10 years of age at the beginning of each admission to the Clinical Center.",[87],"Niemann-Pick Disease, Type C",[89,90,91,68,92,93,94],"Lysosomal Storage","Biomarkers","Longitudinal","Niemann Pick Type C","NPC","Lysosomal Storage Disorder","2026-06-27",{"date":97,"type":36},"2026-06-30",{"date":99,"type":36},"2006-08-14",{"name":42,"class":43},{"id":102,"slug":103,"hasResults":11,"nctId":104,"briefTitle":105,"officialTitle":105,"acronym":4,"eligibilityCriteria":106,"healthyVolunteers":11,"sex":52,"minAge":81,"maxAge":107,"enrollmentInfo":108,"targetDuration":4,"studyType":57,"phases":4,"briefSummary":110,"conditions":111,"keywords":114,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":122,"lastUpdatePostDateStruct":123,"startDateStruct":125,"completionDateStruct":4,"leadSponsor":127,"locationsCount":128},"100076462","natural-history-study-of-patients-with-excess-androgen-100076462","NCT00250159","Natural History Study of Patients With Excess Androgen","* INCLUSION CRITERIA:\n\n  1. Males, ages 0 - 99 with known or suspected FMPP or\n  2. Patients (males and females, ages 0 - 99) with known or suspected (based on hormonal, clinical and\u002For genetic testing) CAH of any type.\n  3. Patients with excess androgen of unknown etiology or\n  4. Relatives of patients in this protocol.\n\nEXCLUSION CRITERIA:\n\n1. Females with isolated polycystic ovary syndrome. If, following a diagnostic work-up, a patient is determined to have PCOS as the only cause of her hyperandrogenism; she will no longer be followed on this protocol.\n2. Patients with significant non-endocrine medical conditions.\n3. Females who are pregnant at the time of initial enrollment.","99 Years",{"count":109,"type":21},3000,"This study will evaluate and gather information in patients with genetic causes of too much androgen (male-like hormone) in order to better understand the effects of too much androgen and describe problems associated with it. Too much androgen in childhood, if untreated, results in rapid growth and early puberty with early cessation of growth and short stature in adulthood. Too much androgen in adulthood may result in infertility, and women may have excess facial hair, acne and a more male-like appearance. Excess androgen may also affect mood and behavior and possibly the secretion of other hormones, such as insulin. Two genetic diseases that result in early childhood androgen excess are congenital adrenal hyperplasia (CAH) and familial male-limited precocious puberty (FMPP).\n\nPatients with known or suspected CAH due to 21-hydroxylase deficiency, 11- hydroxylase deficiency, or 3-beta-hydroxysteroid dehydrogenase deficiency and males with known or suspected FMPP may be eligible for this study. Patients with both classic and non-classic CAH are eligible, and patients with androgen excess of unknown cause may be eligible.\n\nParticipants undergo the following procedures:\n\n* Medical history and physical examination.\n* Fasting blood tests for analysis of hormones, blood chemistries including blood sugar and cardiovascular risk factors such as lipids.\n* Oral glucose tolerance test for patients with elevated insulin levels. For this test, a catheter (plastic tube) is placed in a vein in the patient's arm. The patient drinks a sugar-containing fluid and blood samples are collected through the catheter at intervals starting with drinking the solution, and then 30, 60 and 120 minutes after drinking the solution.\n* 24-hour urine collection to measure hormone levels in the urine.\n* DNA testing for patients with 21-hydroxylase deficiency to help identify the type of genetic mutation responsible for the disease.\n* X-ray of the left hand to measure bone age in growing children. The x-ray is used to determine how far into puberty the child is and how much growth potential is left in the bones.\n* A pelvic ultrasound in females and testicular ultrasound in males to evaluate the size and development of the gonads (ovaries in females and testes in males).\n* Cognitive and psychological tests, including an IQ test and evaluation of memory, achievement and behavior.\n* Other tests and evaluations based on medical need.\n\nThe schedule for these procedures varies. In a part of the study involving only patients with CAH, growing children are evaluated twice (once in childhood and once after reaching adult height), and adults are evaluated once. In another part of the study involving patients with CAH and FMPP, growing children are seen twice a year, and adults and children who have reached adult height may be seen annually. Additional visits may be scheduled if medically indicated. In this part of the study, females are asked to keep a record of their periods after their first menstrual cycle.",[112,113],"Congenital Adrenal Hyperplasia (CAH)","Familial Male-Limited Precocious Puberty (FMPP)",[112,115,116,117,68,118,119,120,121],"Familial Male Precocious Puberty (FMPP)","21-Hydroxylase Deficiency","Adrenal Insufficiency","Congenital Adrenal Hyperplasia","CAH","Familial Male Precocious Puberty","FMPP","2026-06-25",{"date":124,"type":36},"2026-06-26",{"date":126,"type":36},"2006-01-02",{"name":42,"class":43},2,{"id":130,"slug":131,"hasResults":11,"nctId":132,"briefTitle":133,"officialTitle":134,"acronym":4,"eligibilityCriteria":135,"healthyVolunteers":11,"sex":52,"minAge":136,"maxAge":54,"enrollmentInfo":137,"targetDuration":4,"studyType":57,"phases":4,"briefSummary":139,"conditions":140,"keywords":146,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":151,"lastUpdatePostDateStruct":152,"startDateStruct":153,"completionDateStruct":155,"leadSponsor":157,"locationsCount":44},"100517564","mehmo-natural-history-and-biomarkers-100517564","NCT06019182","MEHMO Natural History and Biomarkers","Investigations of Individuals With MEHMO Syndrome or eIF2-Pathway Related Conditions","* INCLUSION CRITERIA:\n\nTo be eligible to participate in this study, an individual must meet the following criteria:\n\nBe \\>= 1-week of age if affected, or \\>=1-month of age if unaffected.\n\nFor Screening:\n\n1. Have a combination of signs\u002Fsymptoms suggestive of MEHMO syndrome,\n\n   AND\n\n   no or inconclusive molecular testing.\n\n   OR\n2. Be a relative of an individual with MEHMO syndrome\u002FeIF2-related condition and whose genetic may be informative for research.\n\nFor Main Study:\n\n1. Have a combination of signs\u002Fsymptoms suggestive of MEHMO syndrome,\n\n   AND\n\n   disease-associated variant(s) or variant(s) of uncertain significance in one of the eIF2-pathway related genes\n\n   OR\n2. Be a relative of an individual with MEHMO syndrome\u002FeIF2-related condition, AND a carrier of the pathogenic or likely pathogenic variant.\n\n   OR\n3. Be a non-affected, non-carrier family member of an individual with MEHMO syndrome or an eIF2-pathway related condition.\n\nEXCLUSION CRITERIA:\n\nAny individual who, in the opinion of the Investigators, is unable to comply with the protocol or have medical conditions that would potentially increase the risk of participation will be excluded from participation in this study.","1 Week",{"count":138,"type":21},150,"This observational natural history study will follow individuals with MEHMO (Mental disability, Epileptic seizure, Hypopituitarism\u002FHypogenitalism, Microcephaly, Obesity) syndrome or an eIF2-pathway related disorder, who have symptoms such as intellectual delay, seizures, abnormal hormone and blood sugar levels, and decreased motor skills.\n\nNo current treatment for these conditions is available. A major impediment to the testing of potential therapeutic interventions is the lack of well-defined outcome measures. This protocol seeks to identify biochemical and clinical markers to monitor disease progression, and better understand the natural history of these conditions.\n\nAny person diagnosed with MEHMO syndrome or related conditions, who can travel to the NIH Clinical Center can participate in this study.\n\nThe study involves:\n\n* General health assessment and evaluation\n* Imaging studies\n* Laboratory tests\n* Collection of blood, urine, spinal fluid, skin biopsy.",[141,142,143,144,145,60],"Intellectual Disability","Epilepsy","Hypogonadisms","Microcephaly","Nervous System Malformations",[147,148,149,150],"MEHMO","X-linked MEHMO Syndrome","eIF2-Pathway Related Conditions","EIF2S3","2026-06-24",{"date":122,"type":36},{"date":154,"type":36},"2023-10-23",{"date":156,"type":21},"2053-09-01",{"name":42,"class":43},{"id":159,"slug":160,"hasResults":11,"nctId":161,"briefTitle":162,"officialTitle":162,"acronym":4,"eligibilityCriteria":163,"healthyVolunteers":15,"sex":52,"minAge":81,"maxAge":54,"enrollmentInfo":164,"targetDuration":4,"studyType":57,"phases":4,"briefSummary":166,"conditions":167,"keywords":170,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":151,"lastUpdatePostDateStruct":181,"startDateStruct":182,"completionDateStruct":184,"leadSponsor":186,"locationsCount":128},"100495434","a-prospective-natural-history-study-of-lymphatic-anomalies-100495434","NCT05731141","A Prospective Natural History Study of Lymphatic Anomalies","* INCLUSION CRITERIA:\n\nAffected (Proband)\n\nIn order to be eligible to participate in this study, an individual must meet one of the following criteria as determined after review of medical history:\n\n* Current or history of lymphatic anomaly or symptoms suggestive of a lymphatic disorder Or\n* An ill-defined vascular anomaly that is suspected to have an abnormal lymphatic component Or\n* A pathogenic, likely pathogenic, or VUS in a genetic disorder with a known lymphatic component Or\n* Clinical diagnosis of a syndrome with a known lymphatic component\n\nUnaffected (First Degree Relatives: Parents and Siblings)\n\nGenetic variants underlying complex lymphatic anomalies can be passed down through parents or be new in a child (de novo). Inclusion of first-degree relatives will assist in genetic analysis to delineate whether the variant is inherited or de novo.\n\nTo be eligible to participate as a first degree relative in this study, an individual must be a first-degree family member of an affected participants\n\nEXCLUSION CRITERIA:\n\nAffected Proband\n\nAn individual who meets any of the following criteria will be excluded from participation in this study after review of medical history, concomitant medication and allergy review, anthropometrics, and performance status:\n\n-Any condition, in the opinion of the investigator, that would increase risk of participation or impair their ability to comply with protocol requirements.\n\nLymphatic anomalies that are definitively determined to be secondary by the principal investigator will be excluded from this study. For example, participants who develop a lymphedema after breast cancer surgery.\n\nUnaffected (First Degree Relatives)\n\n-Any condition, in the opinion of the investigator, that would increase risk of participation or impair their ability to comply with protocol requirements.",{"count":165,"type":21},1200,"Background:\n\nThe lymphatic system is a network of vessels that carry a clear fluid called lymph through the body. Problems in the lymphatic system can cause pain, fluid buildup, and issues with immunity. There is much researchers do not understand about lymphatic anomalies. In this natural history study, they will collect data from a lot of people over a long time.\n\nObjective:\n\nTo better understand why lymphatic anomalies develop. The goal is to improve future treatments.\n\nEligibility:\n\nPeople aged 0 days and older with a suspected or confirmed lymphatic anomaly. Their unaffected parents or siblings aged 7 years or older are also needed.\n\nDesign:\n\nParticipants may remain in the study indefinitely. Affected participants may be evaluated every 10 months to 2 years. Some participants will be seen over telemedicine. Others will be seen at the NIH Clinical Center for 2-5 days.\n\nAll participants will have a physical exam. They may provide specimens including blood, saliva, hair follicles, stool, skin, and other tissues. Samples may be used for genetic testing.\n\nParticipants may undergo other tests depending on their medical conditions. The NIH Clinical Center visit may include:\n\nHeart tests include placing stickers on the chest to measure electrical activity and using sound waves to capture pictures of the heart.\n\nA lung test measures the muscle strength in the chest. Participants will blow into a tube.\n\nPhotographs may be taken of participants faces and other features.\n\nImaging scans will take pictures of the inside of the body. One scan will measure bone density.\n\nOne type of scan tracks how lymph fluid moves through the body. Participants will be under anesthesia, and they will be injected with a dye.",[168,169],"Lymphatic Diseases","Lymphatic Abnormalities",[171,172,173,174,175,176,177,178,179,180],"Protein Losing Enteropathy","Lymphedema","Lymphangiectasia","Kaposiform Lymphangiomatosis","Gorham Stout Disease","Generalized Lymphatic Anomaly","Complex Lymphatic Anomaly","Chylous Effusion","Chylous Ascites","Central Conducting Lymphatic Anomaly",{"date":122,"type":36},{"date":183,"type":36},"2023-03-20",{"date":185,"type":21},"2028-12-31",{"name":42,"class":43},{"id":188,"slug":189,"hasResults":11,"nctId":190,"briefTitle":191,"officialTitle":191,"acronym":4,"eligibilityCriteria":192,"healthyVolunteers":11,"sex":52,"minAge":193,"maxAge":194,"enrollmentInfo":195,"targetDuration":4,"studyType":57,"phases":4,"briefSummary":197,"conditions":198,"keywords":205,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":151,"lastUpdatePostDateStruct":208,"startDateStruct":209,"completionDateStruct":211,"leadSponsor":213,"locationsCount":44},"100435319","gonadal-tissue-freezing-for-fertility-preservation-in-individuals-at-risk-for-ovarian-dysfunction-premature-ovarian-insufficiency-and-clinically-indicated-gonadectomy-100435319","NCT04948658","Gonadal Tissue Freezing for Fertility Preservation in Individuals at Risk for Ovarian Dysfunction, Premature Ovarian Insufficiency and Clinically Indicated Gonadectomy","* INCLUSION CRITERIA:\n\nIn order to be eligible to participate in this study, an individual must meet all of the following criteria:\n\n1. Individuals with Turner Syndrome prior to menarche aged 2 years to 12 years whose families seek to store ovarian tissue for possible future use.\n\n   Or\n\n   Individuals with galactosemia (age 2-21)\n\n   Or\n\n   Adolescent females up to age 21 years old, who have undergone menarche and are subsequently diagnosed with premature ovarian insufficiency and their last menstrual period occurred within 2 years of presentation. Diagnosis of POI is based on 2 elevated FSH concentrations obtained over 1 month apart.\n\n   Or\n\n   Children or adolescents aged 2-24 years old who have diminished ovarian reserve based on laboratory findings or who respond poorly to ovarian stimulation for egg freezing.\n\n   Or\n\n   Individuals with variations in sex characteristics (or differences in sex development, DSD) including Turner syndrome with Y chromosome material who undergo prophylactic gonadectomy for clinical indications.\n\n   Or\n\n   Individuals (2-35 years) receiving high-risk gonadotoxic therapy at the NIH Clinical Center who are at high risk for developing premature ovarian insufficiency and infertility.\n2. Stated willingness to comply with all study procedures and availability for the duration of the study.\n3. Ability of subject, parents, or guardian to understand and the willingness to sign a written informed consent document.\n\nEXCLUSION CRITERIA:\n\nAn individual who meets any of the following criteria will be excluded from participation in this study:\n\n1. Individuals older than 7 years with psychological, psychiatric, or other conditions which prevent giving fully informed consent or assent.\n2. Individuals with a pelvic mass tumor noted on pre-operative ultrasound, will undergo usual care for the underlying condition and will not undergo oophorectomy for ovarian tissue cryopreservation.\n3. Individuals whose underlying medical condition significantly increases their risk of complications from anesthesia and surgery.\n4. Females with POI due to chemotherapy or radiation treatment\n5. Pregnancy or lactation\n6. Individuals with VSC who choose to retain gonads after clinical consulting.\n7. Individuals with Turner Syndrome who have an undetectable AMH based on testing laboratory reference range.","2 Years","35 Years",{"count":196,"type":21},200,"Background:\n\nTurner Syndrome, galactosemia, and premature ovarian insufficiency are all conditions that may make it very hard or impossible for a person to become pregnant and have their own child. Researchers want to learn more about why this happens and if freezing Gonadal tissue allows for fertility preservation.\n\nObjective:\n\nTo find out why people with certain conditions have can have premature ovarian insufficiency (POI or early menopause) and individuals with variations in sex characteristics have trouble getting pregnant and if freezing the gonads tissue from them will help to have their own child in the future.\n\nEligibility:\n\nIndividuals aged 2-21 who have Turner Syndrome or galactosemia. Also, females aged 13-21 with premature ovarian insufficiency, individuals with variations in sex characteristics, and individuals 2-35 receiving high-risk gonadotoxic therapy\n\nDesign:\n\nParticipants will be screened with a medical history.\n\nParticipants may have a physical exam and blood tests. Their body measurements may be taken. These include weight, height, arm span, skin fold, and sitting height. They may fill out surveys about their quality of life, body image, and health.\n\nParticipants may have a transabdominal pelvic ultrasound. A probe will be placed on their belly and will take pictures of the organs in the pelvis. They may have a transvaginal pelvic ultrasound performed while asleep in the operating room if needed.\n\nParticipants may have surgery to remove an gonads and skin biopsy. The removed tissue will be frozen and stored. The tissue will have to be stored for many years. NIH will pay to store the tissue for 1 year. After that, participants will have to pay for storage.\n\nA piece of the gonads (no more than 20%) will be used for research\n\nTravel, lodging and meals for participants traveling greater than 50 miles will be reimbursed based off the government rate. Local participants will not be reimbursed.\n\nParticipants will have a checkup 6 weeks after surgery one or more follow-up visits 6-18 months after surgery. They may have phone follow-up every 12-24 months after surgery.\n\nParticipation will last 30 years.",[199,200,201,202,203,204],"Turner Syndrome","Post-menarcheal Adolescents","Ovarian Disfunction","Galactosemia","Variations in Sex Characteristics","Differences in Sex Development",[206,68,207,203,204],"OVARIAN FUNCTION","follicle loss",{"date":122,"type":36},{"date":210,"type":36},"2021-09-13",{"date":212,"type":21},"2030-07-31",{"name":42,"class":43},{"id":215,"slug":216,"hasResults":11,"nctId":217,"briefTitle":218,"officialTitle":218,"acronym":4,"eligibilityCriteria":219,"healthyVolunteers":15,"sex":52,"minAge":53,"maxAge":107,"enrollmentInfo":220,"targetDuration":4,"studyType":57,"phases":4,"briefSummary":222,"conditions":223,"keywords":228,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":151,"lastUpdatePostDateStruct":233,"startDateStruct":234,"completionDateStruct":236,"leadSponsor":238,"locationsCount":44},"100416880","androgen-receptor-implications-for-health-and-wellbeing-natural-history-study-of-individuals-with-androgen-insensitivity-100416880","NCT04708431","Androgen Receptor, Implications for Health and Wellbeing: Natural History Study of Individuals With Androgen Insensitivity","* INCLUSION CRITERIA:\n\nInclusion Criteria for AIS Subjects\n\nIn order to be eligible to participate in this study, an individual must meet all the following criteria:\n\n1. Individuals ages 8-99 years old with known androgen insensitivity based on pathologic androgen receptor gene mutation or based on clinical diagnosis of complete androgen insensitivity (CAIS) based on 46 XY karyotype, presence of testis, absence of uterus, high testosterone without signs of virilization at birth or during puberty and\u002For multiple members in the family also presenting with clinical CAIS.\n2. Identify as male or female\n3. Patients with both complete, partial, and mild androgen insensitivity are eligible\n4. Stated willingness to comply with all study procedures and availability for the duration of the study\n5. Ability of subject or guardian to understand and the willingness to sign and date a written informed consent document.\n\nInclusion Criteria for Relative of AIS Subjects\n\n1\\) Adult Relatives of patients with AIS\n\nEXCLUSION CRITERIA:\n\nExclusion Criteria for AIS Subjects\n\n1. An individual who meets any of the following criteria will be excluded from participation in this study: Patients with other diagnoses such as partial or complete gonadal dysgenesis, 5-alpha reductase deficiency, and 46 XY. If, following a diagnostic work-up, a patient is determined to have causes for 46 XY DSD other than androgen insensitivity; they will no longer be followed on this protocol. They will have the opportunity to continue care with the team under the Data Collection Protocol or may be referred to an expert or multidisciplinary DSD team in the community.\n2. Patients with significant non-endocrine medical conditions.\n\nExclusion Criteria for Relative of AIS Subjects\n\n1\\) Patients with significant non-endocrine medical conditions.",{"count":221,"type":21},650,"Background:\n\nAndrogen effects in humans are usually (but not always) mediated by the androgen receptor which is coded for by the androgen receptor gene (AR gene). Androgen Insensitivity Syndrome (AIS) is a rare condition in which the body cannot sense the male hormones in the blood or tissue. Both women and men can be affected by AIS. Researchers want to learn more about the health of people with AIS over time.\n\nWith a natural history study in individuals with AIS, data and tests may provide information regarding health risks (including the risks and benefits of gonadectomy and best ways to monitor for tumor) and optimal management of individuals with AIS as well as elucidate the role of the androgen receptor in human health. This study does not involve any interventions and we can provide clinical care while collecting data.\n\nObjective:\n\nThe objective of this natural history study is to describe and define a comprehensive phenotype (characteristic) of patients with AIS based on confirmed androgen receptor (AR) gene difference. We will evaluate hormones, bone density and markers, cardiovascular and metabolic parameters, as well as quality of life and tumor formation risk and evaluation. The purpose is to obtain a better understanding of the overall health issues that people with AIS may have through the study procedures listed.\n\nEligibility:\n\nPeople ages 8-99 with AIS and their adult relatives\n\nDesign:\n\nParticipants will go through a series of study procedures for data and specimen collection. This will be done to understand how AIS affects individuals since the androgen receptor is found in many tissues in the body including skin, bone, muscle, and the neurologic, immune and metabolic systems. All tests will be performed by skilled and trained study professionals.\n\nParticipants will be screened with:\n\nMedical history\n\nPhysical exam\n\nMedical record review\n\nLab tests.\n\nParticipants will have physical exams. Their body measurements will be taken. They will have blood and urine tests. They will have electrocardiograms to check heart health. They may complete questionnaires. They may have an Oral Glucose Tolerance Test.\n\nParticipants may have x-rays and HRpQCT scans taken of the hand, wrist, and other bones.\n\nParticipants will have body scans to measure bone thickness.\n\nParticipants will have magnetic resonance imaging (MRI) or sonogram of the pelvis. For MRI, they may get a contrast agent via intravenous (IV) catheter.\n\nAdult participants may have the following:\n\nMR elastography. It uses MRI and low-frequency vibrations to map stiffness of body tissues.\n\nMR spectroscopy. It uses MRI to take pictures of chemicals in the liver and body fat.\n\nCardiac computed tomography scan. It uses x-rays to make pictures of the heart. Participants may get a contrast agent via IV.\n\nOptional genital exam.\n\nOptional one-time vaginal swab.\n\nParticipants will have visits every 1-2 years. Participation lasts indefinitely.\n\nAdult relatives will also be invited to participate but will have only 1 visit. It will include some of the above tests.",[224,225,226,227],"Androgen Insensitivity Syndrome","Metabolic Parameters in AIS, CAIS, PAIS and MAIS","Tumor Formation in AIS, CAIS, PAIS and MAIS","Sexual Function AIS, CAIS, PAIS and MAIS",[229,230,231,232,68],"Androgen insensitivity syndrome (AIS)","Complete androgen insensitivity (CAIS)","Partial androgen insensitivity (PAIS)","Mild androgen insensitivity syndrome (MAIS)",{"date":122,"type":36},{"date":235,"type":36},"2021-04-29",{"date":237,"type":21},"2040-02-01",{"name":42,"class":43},{"id":240,"slug":241,"hasResults":11,"nctId":242,"briefTitle":243,"officialTitle":243,"acronym":4,"eligibilityCriteria":244,"healthyVolunteers":11,"sex":52,"minAge":245,"maxAge":54,"enrollmentInfo":246,"targetDuration":4,"studyType":57,"phases":4,"briefSummary":248,"conditions":249,"keywords":254,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":151,"lastUpdatePostDateStruct":258,"startDateStruct":259,"completionDateStruct":261,"leadSponsor":262,"locationsCount":44},"100268136","evaluation-of-children-with-endocrine-and-metabolic-related-conditions-100268136","NCT02769975","Evaluation of Children With Endocrine and Metabolic-Related Conditions","* INCLUSION CRITERIA:\n\nIn order to be eligible to participate in this study, an individual must meet all of the following criteria:\n\n* Participants with known or suspected endocrine disorder age 3 months-18 years are eligible for this protocol.\n* Relatives ages 3 months-100 years may be enrolled if clinically indicated for the diagnosis of a proband.\n\nEXCLUSION CRITERIA:\n\nAn individual who meets any of the following criteria will be excluded from participation in this study:\n\n* Lack of suspected endocrine disorders.\n* Any medical, physical, psychiatric, or social conditions, which, in the opinion of the investigators, would make participation in this protocol not in the best interest of the patient, will exclude participation. Patients who are critically ill, unstable, or with severe organ failure that may affect\u002Flimit the endocrine evaluation and place unsustainable demands on Clinical Center or NICHD resources will be excluded.","3 Months",{"count":247,"type":21},15000,"Background:\n\nEndocrine glands give off hormones. Researchers want to learn more about the disorders that affect these glands in children. These disorders might be caused by changes in genes. Genes contain DNA, which is the blueprint of how a cell works. Researchers want to identify the genes involved in endocrine and metabolic disorders. This might help develop new ways to diagnose and treat the disorders.\n\nObjective:\n\nTo study the inheritance of endocrine or metabolism disorders.\n\nEligibility:\n\nChildren ages 3month-18 with known or suspected endocrine or metabolism disorders.\n\nFamily members ages 3months-100. They may participate in the DNA part of the study.\n\nDesign:\n\nParticipants will be screened with a review of their medical records. Their parents or guardians will allow the records to be released.\n\nParticipants will have a clinic visit. This may include a physical exam and medical history.\n\nParents or guardians will give their consent for the study. Participants may have tests, surgery, or other procedures to help diagnose or treat their condition. These could include:\n\nBlood, urine, and saliva tests\n\nGrowth hormone test\n\nPituitary and adrenal function tests\n\nPicture of chromosomes\n\nImaging tests. These may include X-ray, ultrasound, scans, or a skeletal survey.\n\nGenetic tests\n\nSleep study\n\nMedical photographs\n\nIf surgery is done, a tissue sample will be taken.\n\nParticipants may have follow-up visits for diagnosis and treatment.\n\nParticipating relatives will have one visit. This will include medical history and blood and saliva tests. The blood and saliva will be used for DNA testing.",[117,250,251,252,253],"Growth Disorder","Endocrine Diseases","Metabolic Disease","Bone Diseases, Metabolic",[255,60,256,250,257],"Endocrinology","Pediatric","Pubertal Development",{"date":122,"type":36},{"date":260,"type":36},"2016-07-12",{"date":73,"type":21},{"name":42,"class":43},{"id":264,"slug":265,"hasResults":11,"nctId":266,"briefTitle":267,"officialTitle":267,"acronym":4,"eligibilityCriteria":268,"healthyVolunteers":11,"sex":16,"minAge":269,"maxAge":194,"enrollmentInfo":270,"targetDuration":4,"studyType":57,"phases":4,"briefSummary":272,"conditions":273,"keywords":277,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":282,"lastUpdatePostDateStruct":283,"startDateStruct":284,"completionDateStruct":286,"leadSponsor":288,"locationsCount":44},"100473109","biorepository-in-participants-who-undergo-otc-for-gonadotoxic-therapy-100473109","NCT05440617","Biorepository in Participants Who Undergo OTC for Gonadotoxic Therapy","* INCLUSION CRITERIA:\n\nIn order to be eligible to participate in this study, an individual must meet all of the following criteria:\n\n* Provision of signed and dated informed consent\u002Fassent form.\n* Stated willingness to comply with all study procedures and availability for the duration of the study.\n* Subjects who have planned to undergo OTC for gonadotoxic therapy based on current standard of care.\n\nEXCLUSION CRITERIA:\n\n-An individual who meets any of the following criteria will be excluded from participation in this study:\n\n--Adults subjects with psychological, psychiatric, or other conditions which prevent giving fully informed consent.","4 Years",{"count":271,"type":21},100,"Background:\n\nMedical advances have improved survival rates for many cancers and other illnesses. This means that more people are coping with the long-term effects of these treatments. Some treatments can cause female infertility. Ovarian tissue cryopreservation (OTC) may help. Before undergoing a treatment that may damage their fertility, patients may opt to freeze a sample of ovarian tissue. The tissue contains immature egg cells. When thawed, the tissue can be reimplanted. This procedure can help women become pregnant.\n\nObjective:\n\nThis natural history study will create a databank of ovarian tissue. The NIH will provide OTC as a clinical service. The NIH will also request a portion of the tissue to use for research.\n\nEligibility:\n\nFemales aged 4 to 35 who opt to have OTC before receiving cancer treatment.\n\nDesign:\n\nParticipants will be screened. Their existing medical records will be reviewed.\n\nThey will be asked if they want to donate a portion of their ovarian tissue for research. No more than 20% of the tissue collected will be taken for research. Some other tissues that would otherwise be discarded will also be kept.\n\nMedical data from each participant may also be collected and stored in the database. This data may include results of routine blood tests, imaging tests, and other information. The data will be coded for privacy.\n\nParticipants will answer a questionnaire. They will be asked about their fertility treatment and general health. The survey takes about 30 minutes.\n\nThey will repeat the questionnaire once a year for 30 years.",[274,275,276],"Acute Ovarian Failure","Infertility","Early Menopause And Infertility In Females After Treatment For Childhood Cancer",[278,279,280,281,68],"Ovarian Tissue Preservation","Cancer Survivors And Infertility","Acute Ovarian Failure In The Childhood Cancer Survivor Study","Ovarian Failure After Radiation","2026-06-23",{"date":151,"type":36},{"date":285,"type":36},"2022-07-22",{"date":287,"type":21},"2041-09-21",{"name":42,"class":43},{"id":290,"slug":291,"hasResults":11,"nctId":292,"briefTitle":293,"officialTitle":294,"acronym":4,"eligibilityCriteria":295,"healthyVolunteers":15,"sex":52,"minAge":296,"maxAge":54,"enrollmentInfo":297,"targetDuration":4,"studyType":57,"phases":4,"briefSummary":298,"conditions":299,"keywords":301,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":282,"lastUpdatePostDateStruct":307,"startDateStruct":308,"completionDateStruct":310,"leadSponsor":312,"locationsCount":44},"100441679","study-of-skeletal-disorders-100441679","NCT05031507","Study of Skeletal Disorders","Clinical and Laboratory Study of Rare Skeletal Disorders","* INCLUSION CRITERIA:\n\nOur study population will support the mission and scientific focus of the Unit on Skeletal Genomics. We will focus enrollment of subjects (and their relatives) who fall within one of the below categories:\n\n* Individuals with a skeletal disorder that affects phosphate levels and\u002For metabolism\n* Individuals with a skeletal disorder associated with skeletal overgrowth\n* Individuals with a skeletal disorder or history of pregnancy affected by skeletal findings with an unknown molecular basis or unknown etiology\n\nIn addition to noting the above, to be eligible to participate in this study as an affected subject, an individual must meet all of the following criteria:\n\n1. Have a known (via clinical, radiographic or molecular diagnosis) or suspected skeletal disorder, findings associated with or increasing risk for skeletal abnormalities, or history of pregnancy affected by skeletal findings\n2. State willingness to comply with study procedures and availability for the duration of the study\n3. Be age 2 months or older\n4. Be able to understand and sign informed consent document (or availability of a parent\u002Fguardian or LAR to provide written consent)\n\nIn order to be eligible to participate in this study as an unaffected subject, an individual must meet all of the following criteria:\n\n1. Be an unaffected family member of an affected enrolled subject\n2. State willingness to comply with study procedures and availability for the duration of the study\n3. Be age 2 months or older\n4. Be able to understand and sign informed consent document (or availability of a parent\u002Fguardian)\n\nEXCLUSION CRITERIA:\n\nThe below describe exclusion criteria for an individual to participate as an affected subject:\n\n1. An individual who cannot or is unwilling to abide by the procedures of the protocol.\n2. An individual deemed to not have sufficient signs of or risks for skeletal disease.\n3. An individual who is pregnant.\n\nThe below describe exclusion criteria for an individual to participate as an unaffected subject:\n\n1. An individual who cannot or is unwilling to abide by the procedures of the protocol.\n2. An individual that shows signs of skeletal disease.\n3. An individual who is pregnant.","2 Months",{"count":271,"type":21},"Background:\n\nThere are 461 conditions that affect the bones (skeletal disorders). Many of these are not well understood and do not have any specific treatments. Researchers want to collect more data about these conditions.\n\nObjective:\n\nTo gain more information about the causes of skeletal disorders and how they progress over time.\n\nEligibility:\n\nPeople ages 2 months or older with known or suspected skeletal disorders or history of pregnancy affected by skeletal findings. Also, healthy family members of affected enrolled participants.\n\nDesign:\n\nParticipants can take part in the study either remotely or in person. Those who take part remotely may send in medical records, blood samples, photographs, and other materials.\n\nParticipants medical records will be reviewed. They may give blood and\u002For urine samples. They will give blood, saliva, or tissue samples for genetic tests. They may have genetic counseling.\n\nParticipants ages 2 years and older may have different kinds of imaging scans, such as x-rays. For these scans, they may have to lie still while machines take pictures of their bones.\n\nParticipants with skeletal disorders who come to the clinic will be examined. They may be asked to stay in the hospital for a few days to take extra tests. They may have a bone or skin biopsy.\n\nParticipants with skeletal disorders may be photographed to show the effects of their disorder and how it changes over time.\n\nFor participants with skeletal disorders, their blood or tissue samples may be used to make a special type of stem cell. These cells can be used in the laboratory to make many other types of cells. A large supply of these cells may be created for research.\n\nParticipation will last indefinitely.",[300],"Skeletal Disorders",[302,303,304,305,306,68],"skeletal","Bone","Skeletal Dysplasia","Short Stature","DWARFISM",{"date":151,"type":36},{"date":309,"type":36},"2022-01-18",{"date":311,"type":21},"2027-07-31",{"name":42,"class":43},{"id":314,"slug":315,"hasResults":11,"nctId":316,"briefTitle":317,"officialTitle":317,"acronym":4,"eligibilityCriteria":318,"healthyVolunteers":15,"sex":52,"minAge":319,"maxAge":320,"enrollmentInfo":321,"targetDuration":4,"studyType":57,"phases":4,"briefSummary":323,"conditions":324,"keywords":326,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":282,"lastUpdatePostDateStruct":330,"startDateStruct":331,"completionDateStruct":333,"leadSponsor":335,"locationsCount":44},"100443270","development-of-a-wearable-point-of-care-monitoring-device-for-pediatric-obstructive-sleep-apnea-100443270","NCT05052216","Development of a Wearable Point of Care Monitoring Device for Pediatric Obstructive Sleep Apnea","* INCLUSION CRITERIA:\n\nIn order to be eligible to participate in this study, an individual must meet all of the following criteria:\n\n1. Male or female, aged \\>=3 and \\\u003C13 years\n2. For NORM group: Children without OSA (AHI\\\u003C2)\n3. For OSA group: Children with OSA (AHI\\>=2)\n\nEXCLUSION CRITERIA:\n\nAn individual who meets any of the following criteria will be excluded from participation in this study:\n\n1. Children \\\u003C3 years or \\>=13 years\n2. Any chronic or acute medical condition that in the opinion of the investigators will interfere with overnight sleep study acquisition.\n3. Any head injuries or physical conditions that in the opinion of the investigators would affect probe signal and contact.\n4. For NORM group: Children with AHI\\>=2\n5. For OSA group: Children with AHI\\\u003C2","3 Years","12 Years",{"count":322,"type":21},120,"Background:\n\nObstructive sleep apnea (OSA) occurs when the blockage of the airway causes a person to stop breathing involuntarily for 10 seconds or more throughout the night during sleep. Pediatric OSA can be especially concerning and can have long-term effects. Researchers want to see how a monitoring device called near-infrared spectroscopy (NIRS) compares with the traditional techniques used in children s sleep studies.\n\nObjective:\n\nTo learn about oxygen levels in the brain and limbs in children with and without sleep apnea using a wearable, point-of-care biosensor.\n\nEligibility:\n\nChildren aged 3-12 who have OSA and plan to receive treatment (OSA group) or who do not have OSA (NORM group).\n\nDesign:\n\nParticipants will be screened with a review of their medical records. If they have taken part in other NIH studies, that data will be reviewed as well.\n\nParticipants in the NORM group will have 1 overnight study visit. Those in the OSA group will have 2 overnight study visits.\n\nParticipants will do an overnight sleep study. They will have a physical exam and medical history. They will have a sleep study electroencephalography (EEG). For this, electrodes will be placed on their head. They will wear a gauze cap to keep the electrodes in place. Two NIRS probes made of a soft silicon will be placed on their forehead and arm. They will follow their normal bedtime routine. Their parent will stay overnight.\n\nThe OSA group will have a second study visit 2 weeks to 12 months after they start treatment for their sleep apnea. They will repeat the sleep study.",[325],"Pediatric Obstructive Sleep Apnea",[327,328,329,68],"near-infrared spectroscopy (NIRS)","tissue oxygenation","Polysomnography",{"date":151,"type":36},{"date":332,"type":36},"2022-08-25",{"date":334,"type":21},"2028-01-31",{"name":42,"class":43},{"id":337,"slug":338,"hasResults":11,"nctId":339,"briefTitle":340,"officialTitle":341,"acronym":4,"eligibilityCriteria":342,"healthyVolunteers":15,"sex":52,"minAge":193,"maxAge":343,"enrollmentInfo":344,"targetDuration":4,"studyType":57,"phases":4,"briefSummary":346,"conditions":347,"keywords":352,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":282,"lastUpdatePostDateStruct":357,"startDateStruct":358,"completionDateStruct":4,"leadSponsor":360,"locationsCount":44},"100054596","an-investigation-of-pituitary-tumors-and-related-hypothalmic-disorders-100054596","NCT00001595","An Investigation of Pituitary Tumors and Related Hypothalmic Disorders","A Clinical and Genetic Investigation of Pituitary and Hypothalamic Tumors and Related Disorders","* INCLUSION CRITERIA:\n\nIn order to be eligible to participate in this study, an individual must meet all of the following criteria:\n\n1. Stated willingness to comply with all study procedures and availability for the duration of the study.\n2. Male or female with:\n\n   1. Evidence for the existence of a tumor of the hypothalamic-pituitary unit or related disorder, as indicated by previously obtained imaging studies or biochemical investigation of the hypothalamo-hypophyseal function (aged 2 years to 70 years)\n\n      or\n   2. Family members (any age) of patients with a family history of tumors of the hypothalamic-pituitary unit or related disorders as part of the linkage part of the study, or\n   3. Members (any age) of a kindred suspected of having an inherited form of neoplasia of the hypothalamic-pituitary unit or related disorder, as evidenced by results of a patient enrolled in this protocol, as part of the linkage part of the study\n3. Ability of the subject or LAR to understand and the willingness to sign a written informed consent document.\n\nEXCLUSION CRITERIA:\n\nAn individual who meets any of the following criteria will be excluded from participation in this study:\n\n1. Pregnancy: Pregnancy will be evaluated only in participants of reproductive age (from 10 years old until 60 years of age unless menopause has already occurred per clinical report of the participant).\n\n   For participants enrolled as external participants or under the Linkage study (where research activities include no more than blood draws), any female who could possibly become pregnant will be screened using clinical criteria (history, with pregnancy testing only if indicated) for exclusion and this information will be documented in the consent process note in EMR. If a participant has initially been registered as external location and then presents on-site, then pregnancy test will be performed if within the reproductive age group.\n2. Patients with any medical, physical, psychiatric, or social condition, which, in the opinion of the investigators, would make participation in this protocol not in their best interest, will be excluded from the study.\n3. Patients who are critically ill, unstable, or with severe organ failure that may affect\u002Flimit the endocrine evaluation and place unsustainable demands on CC or NICHD resources may be excluded.","70 Years",{"count":345,"type":21},2000,"There is a variety of tumors affecting the pituitary gland in childhood; some of these tumors (eg craniopharyngioma) are included among the most common central nervous system tumors in childhood. The gene(s) involved in the pathogenesis of these tumors are largely not known; their possible association with other developmental defects or inheritance pattern(s) has not been investigated. The present study serves as a (i) screening\u002Ftraining, and, (ii) a research protocol.\n\nAs a screening and training study, this protocol allows our Institute to admit children with tumors of the hypothalamic-pituitary unit to the pediatric endocrine clinics and wards of the NIH Clinical Center for the purposes of\n\n(i) training our fellows and students in the identification of genetic defects associated with pituitary tumor formation, and\n\n(ii) teaching our fellows and students the recognition, management and complications of pituitary tumors\n\nAs a research study, this protocol aims at\n\n(i) developing new clinical studies for the recognition and therapy of pituitary tumors; as an example, two new studies have emerged within the context of this protocol: (a) investigation of a new research magnetic resonance imaging (MRI) tool and its usefulness in the identification of pituitary tumors, and (b) investigation of the psychological effects of cortisol secretion in pediatric patients with Cushing disease. Continuation of this protocol will eventually lead to new, separate protocols that will address all aspects of diagnosis of pituitary tumors and their therapy in childhood.\n\n(ii) Identifying the genetic components of pituitary oncogenesis; those will be investigated by (a) studying the inheritance pattern of pituitary tumors in childhood and their possible association with other conditions in the families of the patients, and (ii) collecting tumor tissues and examining their molecular genetics. As with the clinical studies, the present protocol may help generate ideas for future studies on the treatment and clinical follow up of pediatric patients with tumors of the pituitary gland and, thus, lead to the development of better therapeutic regimens for these neoplasms.",[348,349,350,351],"Panhypopituitarism","Gigantism\u002FAcromegaly","Prolactinoma","Cushing Disease",[353,354,355,356,351,68],"Developmental Defect","Oncogenesis","Evaluation and Management","Psychological",{"date":151,"type":36},{"date":359,"type":36},"1997-04-21",{"name":42,"class":43},{"id":362,"slug":363,"hasResults":11,"nctId":364,"briefTitle":365,"officialTitle":365,"acronym":4,"eligibilityCriteria":366,"healthyVolunteers":11,"sex":52,"minAge":245,"maxAge":4,"enrollmentInfo":367,"targetDuration":4,"studyType":57,"phases":4,"briefSummary":368,"conditions":369,"keywords":370,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":376,"lastUpdatePostDateStruct":377,"startDateStruct":379,"completionDateStruct":381,"leadSponsor":383,"locationsCount":44},"100484447","establishment-of-genomic-and-phenotypic-database-for-niemann-pick-disease-type-c-100484447","NCT05588167","Establishment of Genomic and Phenotypic Database for Niemann-Pick Disease, Type C","* INCLUSION CRITERIA;\n\nIn order to be eligible to participate in this study, an individual must meet all of the following criteria:\n\n1. Provision of signed and dated informed consent form\n2. Stated willingness to comply with all study procedures and availability for the duration of the study\n3. Male or female, any age, demographic or ethnic background will be eligible for this study\n4. Diagnosis of NPC will be based on clinical, biochemical or molecular testing.\n\nEXCLUSION CRITERIA:\n\nAn individual who meets any of the following criteria will be excluded from participation in this study:\n\n1. Unwilling to provide consent\n2. Unable to provide biospecimen to obtain DNA\n3. Unable to provide medical records or clinical data",{"count":271,"type":21},"Background:\n\nNiemann-Pick type C (NPC) disease is a rare, progressive neurodegenerative disease that affects mainly the brain, liver, and spleen but also other parts of the body. There is no cure for NPC, and symptoms only get worse over time. Symptoms can include seizures, difficulty moving or talking, or dementia. But symptoms can vary among different people with the disease. Some may have seizures, while others do not, for example. Some people begin showing symptoms in childhood; in others, symptoms may not appear until they are adults. Researchers want to learn more about why NPC affects people differently. This natural history study will gather data from people with NPC in order to understand more about the disease and how it affects the body.\n\nObjective:\n\nThis study will create the first and largest database about NPC.\n\nEligibility:\n\nPeople of any age who have NPC.\n\nDesign:\n\nParticipants will have blood drawn from a vein. This will happen only once. The blood will be used to analyze the participants DNA.\n\nThe participants medical records will be reviewed. The study team will collect data on participants NPC diagnosis and symptoms; they will record how long participants have had each symptom. The study team will also collect data on each participants age, sex, race, height, weight, medications, and other test results.\n\nThe study team will communicate with participants. They will discuss the study and answer any questions.\n\nParticipants will receive up to $190.",[87],[371,372,373,374,375,68],"Genetic","Clinical","DNA","Medical","History","2026-06-17",{"date":378,"type":36},"2026-06-18",{"date":380,"type":36},"2022-11-28",{"date":382,"type":21},"2026-09-30",{"name":42,"class":43},{"id":385,"slug":386,"hasResults":11,"nctId":387,"briefTitle":388,"officialTitle":389,"acronym":4,"eligibilityCriteria":390,"healthyVolunteers":11,"sex":52,"minAge":319,"maxAge":82,"enrollmentInfo":391,"targetDuration":4,"studyType":22,"phases":392,"briefSummary":394,"conditions":395,"keywords":398,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":376,"lastUpdatePostDateStruct":403,"startDateStruct":404,"completionDateStruct":406,"leadSponsor":408,"locationsCount":44},"100057209","phase-1-diagnosis-of-pheochromocytoma-100057209","NCT00004847","Diagnosis of Pheochromocytoma","Diagnosis, Pathophysiology, and Molecular Biology of Pheochromocytoma and Paraganglioma","* INCLUSION CRITERIA:\n\nPatients are eligible for inclusion in this study if they are adults or children of age 3 years old and up with known, sporadic or familial PHEO\u002FPGL, on the basis of one or more of the following:\n\n1. High levels of blood or urinary catecholamines, metanephrines, methoxytyramine or chromogranin A.\n2. Highly suspected presence of PHEO\u002FPGL based on imaging studies, even with normal biochemistry.\n3. Personal or family history of PHEO\u002FPGL or genetic pathogenic variants known to predispose individuals to develop PHEO\u002FPGL.\n\nSigned informed consent is required. The informed consent may be signed by the patient, parent\u002Fguardian in pediatric patients or legally authorized representative (LAR) in adults who lack-decision making capacity to consent to research participation.\n\nPatients must have an outside general practitioner or endocrinologist. Patients with metastatic disease must also have an outside oncologist.\n\nFamily Members of Patients Arm (Linkage Analysis)\n\nParticipants are eligible for inclusion in this study arm if they are:\n\n* Adult family members of patients enrolled in this study;\n* The index family member in this study has a suspected hereditary PHEO\u002FPGL based on previous genetic testing and other suspicious hereditory patterns such as family history of multiple individuals with PHEO\u002FPGL; early age of disease onset; multiplicity of primary tumors; recurrence, etc. and\n* Signed informed consent form is required\n\nEXCLUSION CRITERIA:\n\nPotential patients will be excluded on the basis of one or more of the following:\n\n1. Pregnant or breastfeeding women\n2. Severe cardiac dysfunction\n3. Currently on dialysis\n\nA pregnancy test is performed in women of childbearing age (up to age 55) as a screening after consenting. If a patient is found to have a positive pregnancy test, her participation in this protocol will be terminated. The patient can enroll or re-enroll in the protocol when she is no longer pregnant or breastfeeding.\n\nIn-person participating patients who are not willing to return to the NIH (e.g., after surgery or an initial evaluation) for more than 2 years may be removed from the protocol.\n\nSPECIFIC INCLUSION\u002FEXCLUSION CRITERIA FOR IMAGING STUDIES WITHIN OUR PROTOCOL:\n\nIn adult patients (Excludes Linkage Analysis Arm)\n\nImaging studies are not done in patients that have the following exclusion criteria:\n\n* Inability to lie still for the entire imaging time (e.g., cough, severe arthritis, etc.).\n* Inability to complete the needed investigational and standard-of-care imaging examinations due to other reasons (e.g., severe claustrophobia, radiation phobia, etc.)\n* Any additional medical conditions, serious illness, or other extenuating circumstance that, in the opinion of the Principal Investigator, may significantly interfere with study compliance.\n\nIn pediatric patients:\n\nInclusion criteria for research PET imaging in children:\n\n* Children over 10 years old with very high suspicion of sporadic or familial PHEO\u002FPGL based on at least one of the following:\n\n  * The presence of new onset of symptoms typical of PHEO\u002FPGL such as hypertension or hypertensive episodes, sweating, headaches, pallor, palpitations, drug resistant hypertension, etc.\n  * Family history of PHEO\u002FPGL or genetic pathogenic variants known to predispose individuals to develop these tumors.\n  * The presence of a tumor on conventional imaging including ultrasound, CT and\u002For MRI or \\[123I\\]-MIBG or PET imaging not limited to \\[18F\\]-FDG.\n* Children must give informed assent and be willing to return to the NIH for follow-up.\n\nExclusion criteria for research PET imaging in children:\n\n* Children of less than 10 years of age.\n* Children with impaired mental capacity that precludes informed assent.\n* Inability to lie still for the entire imaging time (e.g., cough, turbulent children, severe claustrophobia, etc.).",{"count":109,"type":21},[393],"PHASE1","The goal of this study is to develop better methods of diagnosis, localization, and treatment for pheochromocytomas. These tumors, which usually arise from the adrenal glands, are often difficult to detect with current methods. Pheochromocytomas release chemicals called catecholamines, causing high blood pressure. Undetected, the tumors can lead to severe medical consequences, including stroke, heart attack and sudden death, in situations that would normally pose little or no risk, such as surgery, general anesthesia or childbirth.\n\nPatients with pheochromocytoma may be eligible for this study. Candidates will be screened with a medical history and physical examination, electrocardiogram, and blood and urine tests. Study participants will undergo blood, urine, and imaging tests, described below, to detect pheochromocytoma. If a tumor is found, the patient will be offered surgery. If surgery is not feasible (for example, if there are multiple tumors that cannot be removed), evaluations will continue in follow-up visits. If the tumor cannot be found, the patient will be offered medical treatment and efforts to detect the tumor will continue. Main diagnostic and research tests may include the following:\n\n1. Blood tests - mainly measurements of plasma or urine catecholamines and metanephrines as well as methoxytyramine. If necessary the clonidine suppression test can be carried out.\n2. Standard imaging tests - Non-investigational imaging tests include computed tomography (CT), magnetic resonance imaging (MRI), sonography, and 123I-MIBG scintigraphy and FDG (positron emission tomography) PET\u002FCT. These scans may be done before and\u002For after surgical removal of pheochromocytoma.\n3. Research PET scanning is done using an injection of radioactive compounds. Patients may undergo 18F-FDOPA, 18F-DA, as well as 68Ga-DOTATATE PET\u002FCT . Each scan takes up to about 2 hours.\n4. Genetic testing - A small blood sample is collected for DNA analysis and other analyses.",[396,397,251],"Pheochromocytoma","Endocrine Disease",[399,400,401,402],"Genetics","Metanephrines","PET","Catecholamines",{"date":378,"type":36},{"date":405,"type":36},"2000-03-22",{"date":407,"type":21},"2048-11-30",{"name":42,"class":43},{"id":410,"slug":411,"hasResults":11,"nctId":412,"briefTitle":413,"officialTitle":414,"acronym":4,"eligibilityCriteria":415,"healthyVolunteers":15,"sex":52,"minAge":193,"maxAge":416,"enrollmentInfo":417,"targetDuration":4,"studyType":57,"phases":4,"briefSummary":419,"conditions":420,"keywords":421,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":427,"lastUpdatePostDateStruct":428,"startDateStruct":430,"completionDateStruct":432,"leadSponsor":434,"locationsCount":44},"100349603","long-term-follow-up-of-survivors-of-pediatric-cushing-disease-100349603","NCT03831958","Long-Term Follow-Up of Survivors of Pediatric Cushing Disease","Long-Term Follow-UP of Survivors of Pediatric Cushing Disease","* INCLUSION CRITERIA:\n\n  1. Males and females 10-42 years old (subjects) who were previously diagnosed and had successful treatment of CD before the age of 21 years old. Patients who have undergone therapies other than surgical resection (such as radiation or medical treatment) will be eligible to participate.\n  2. Normocortisolemia or hypocortisolemia at the time of the study (as documented within past 6 months of recruitment) documented as urine free cortisol or midnight\u002Fafternoon serum or salivary cortisol levels within or below the normal range or documented panhypopituitarism (on glucocorticoid replacement).\n  3. Patients or a legal guardian (in case of cognitively impaired adults or children) must provide assent\u002Fconsent at the time of the recruitment.\n  4. Family members (2- 90 yrs.) of patients with a family history of pituitary tumors and who agree to participate in the DNA\u002Flinkage analysis study.\n\nEXCLUSION CRITERIA:\n\n1. Pregnancy\n2. Patients with any medical, physical, psychiatric, or social conditions, which, in the opinion of the investigators, would make participation in this protocol not in their best interest, will be excluded from the on-site visit of the study. Patients who are critically ill, unstable, or with severe organ failure that may affect\u002Flimit the endocrine evaluation and place unsustainable demands on Clinical Center or NICHD resources will be excluded. They will still be offered the opportunity to participate in the online questionnaire part of the study.","90 Years",{"count":418,"type":21},600,"Background:\n\nThe pituitary gland produces hormones. A tumor in this gland can cause it to produce too much of the hormone cortisol. Too much cortisol in the body causes Cushing disease. This disease causes many problems. Some of these problems might persist after the disease is cured.\n\nObjective:\n\nTo find out the long-term effects of exposure to high levels of cortisol during childhood and adolescence.\n\nEligibility:\n\nPeople ages 10-42years who were diagnosed with Cushing disease before age 21 and are now cured and have normal or low cortisol levels\n\nPeople related to someone with Cushing disease\n\nDesign:\n\nParticipants will be screened with a medical history.\n\nParticipants will complete an online survey. This will include questions about their or their child s physical and mental health.\n\nAll participants will be seen at 5 -year intervals after cure of Cushing disease (5yr, 10yr, 15yr, 20yr (last visit))\n\nParticipants who have a relative with Cushing disease will have a medical history and blood tests or cheek swabs.\n\nParticipants who have the disease will have:\n\nPhysical exam\n\nBlood tests\n\nCheek swab\n\nDXA scan: A machine will x-ray the participant s body to measure bone mineral content.\n\nFor participants who are still growing, a hand x-ray\n\nParticipants with the disease may also have:\n\nHormone stimulation test: Participants will get a hormone or another substance that will be measured.\n\nSerial hormone sampling: Participants blood will be measured several times through a thin plastic tube in an arm vein.\n\nUrine tests: Participants urine may be collected over 24 hours.\n\nMRI: Participants may have a dye injected into a vein. They will lie on a table that slides into a machine. The machine will take pictures of the body.",[351],[422,423,424,425,426,68],"Body Mass Index Z Score","Adult Height","Endocrine Function","Neuropsychological Outcome","Metabolic Syndrome","2026-06-13",{"date":429,"type":36},"2026-06-16",{"date":431,"type":36},"2019-03-04",{"date":433,"type":21},"2040-01-03",{"name":42,"class":43},{"id":436,"slug":437,"hasResults":11,"nctId":438,"briefTitle":439,"officialTitle":440,"acronym":4,"eligibilityCriteria":441,"healthyVolunteers":11,"sex":52,"minAge":193,"maxAge":54,"enrollmentInfo":442,"targetDuration":4,"studyType":57,"phases":4,"briefSummary":443,"conditions":444,"keywords":446,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":453,"lastUpdatePostDateStruct":454,"startDateStruct":456,"completionDateStruct":458,"leadSponsor":459,"locationsCount":44},"100573675","uncovering-genes-behind-cartilage-tumors-and-vascular-anomalies-using-genomic-sequencing-100573675","NCT06749366","Uncovering Genes Behind Cartilage Tumors and Vascular Anomalies Using Genomic Sequencing","Genomic-Wide Sequencing and Functional Studies to Identify the Genes Responsible for Mendelian Disorders Characterized by Cartilage Tumors and Vascular Anomalies","* INCLUSION CRITERIA:\n\nPatients \\>=2 years of age, male or female, of any ethnicity and age will be included if diagnosed with a disorder characterized by cartilage tumors or vascular anomalies.",{"count":271,"type":21},"Background:\n\nOllier disease (OD) and Maffucci syndrome (MS) are rare disorders that increase the risk of cancers in cartilage tissue. These tumors can lead to severe skeletal deformities beginning in childhood. People with OD or MS are also at an increased risk of blood vessel disorders and specific cancers. Researchers want to learn more about what causes these disorders.\n\nObjective:\n\nTo understand the genetic causes of OD and MS.\n\nEligibility:\n\nPeople aged 2 years and older who have OD or MS with cartilage tumors or blood vessel disorders.\n\nDesign:\n\nParticipants will stay at the NIH clinic for 5 days. They will undergo these procedures:\n\nA physical exam with blood tests.\n\nDXA (dual-energy X-ray absorptiometry) scan. The DXA scan measures the density of bones. Participants will lie on a table while a machine uses low-level X-rays to scan their body.\n\nMRI (magnetic resonance imaging) scan. An MRI uses strong magnets to take pictures of the tissues inside the body. Participants will lie on a table that slides into a large tube. A contrast dye may be injected through a needle inserted into a vein in the arm.\n\nX-rays. Some participants may have full-body X-rays instead of an MRI. X-rays take pictures of bones and other internal tissues and organs, such as the heart, lungs, and airways.\n\nPET (positron emission tomography) and CT (computed tomography) scans. Adult participants will have 2 other scans. The PET scan will include a radioactive injection into a vein. They will also have a full-body CT scan.",[445],"Enchondromatosis",[447,448,449,304,450,451,452],"Mendelian Disorders","Ollier Disease","Maffucci Syndrome","Enchondromas","Chondrosarcomas","Hemangiomas","2026-06-12",{"date":455,"type":36},"2026-06-15",{"date":457,"type":36},"2025-01-27",{"date":73,"type":21},{"name":42,"class":43},{"id":461,"slug":462,"hasResults":11,"nctId":463,"briefTitle":464,"officialTitle":465,"acronym":4,"eligibilityCriteria":466,"healthyVolunteers":15,"sex":52,"minAge":81,"maxAge":54,"enrollmentInfo":467,"targetDuration":4,"studyType":57,"phases":4,"briefSummary":469,"conditions":470,"keywords":475,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":479,"lastUpdatePostDateStruct":480,"startDateStruct":482,"completionDateStruct":484,"leadSponsor":486,"locationsCount":44},"100442897","biochemical-and-phenotypical-aspects-of-smith-lemli-opitz-syndrome-and-related-disorders-of-cholesterol-metabolism-100442897","NCT05047354","Biochemical and Phenotypical Aspects of Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Metabolism","Natural History Investigation Into Biochemical and Phenotypical Aspects of Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Metabolism","* INCLUSION CRITERIA:\n\nMales or females of any age with any one of the following:\n\n* Clinical, biochemical, or genetic diagnosis of Smith-Lemli-Opitz Syndrome OR\n* Clinical, biochemical, or genetic diagnosis of desmosterolosis, lathosterolosis, CHILD syndrome, X-linked dominant chondrodysplasia type2 or another inborn error of cholesterol synthesis OR\n* Clinical suspicion of an inborn error of cholesterol synthesis, metabolism or impaired cholesterol homeostasis. Clinical observations may include, but are not limited to lipid-laden macrophages, abnormal LDL, HDL, total cholesterol, triglycerides, abnormal lipid\n\nelectrophoresis, lipid storage in other tissues. OR\n\n-Biologic parents of affected individuals or known carriers based on previously done genetic testing who are willing and able to provide samples of any or all of the following: blood, urine, a skin biopsy, and\u002For tissue derived from clinically indicated surgery or autopsy.\n\nEXCLUSION CRITERIA:\n\n* Affected individuals who cannot travel to the NIH because of their medical condition will be excluded from on-site participation. They may participate in the telemedicine or in the biomaterials parts of the study.\n* Affected individuals who, in the opinion of the investigator, are unable to comply with the protocol or have medical conditions that would potentially increase the risk of participation will be excluded from on-site participation. They may participate in the telemedicine or in the\n\nbiomaterials parts of the study.\n\n* Carrier adults who are unable to or unwilling to provide any of the following samples: Blood, urine, skin biopsy sample or tissue derived from clinically indicated surgery or skin biopsy.\n* Female participants who are pregnant will be excluded from evaluations requiring sedation, radiation and LP. Total blood draw volumes will be kept at a minimum or if anemia of pregnancy is known, no blood will be taken for research testing.",{"count":468,"type":21},250,"Background:\n\nSmith-Lemli-Opitz Syndrome (SLOS) is a genetic disorder. It can cause birth defects and developmental delays. There is no cure for SLOS or other inherited diseases related to cholesterol production or storage. The data gained in this study may help researchers find ways to measure how well future treatments work.\n\nObjective:\n\nTo learn more about SLOS and related disorders and how these diseases affect participants and relatives.\n\nEligibility:\n\nPeople of any age who have or are suspected to have SLOS or another inherited disease related to cholesterol production or storage. Relatives are also needed.\n\nDesign:\n\nParticipants will be screened with a medical record review.\n\nParticipants will have visits every 6 to 12 months. They will have a physical exam. They will fill out a survey about their medical and behavioral history. They may have an eye exam. They may have a neurodevelopmental assessment. They may have a hearing test. Their outer and middle ears may be examined. Their ability to speak, understand speech, eat, and swallow may be assessed. They may get X-rays while they chew and swallow. Their functional ability and needs for adaptive devices or braces may be assessed. They may have a lumbar puncture. Photographs may be taken of their face and body.\n\nParticipants who cannot visit the NIH and relatives will have a virtual visit once a year. They will talk about their medical history and symptoms. They give blood, urine, and skin samples at a lab near their home. They will fill out a survey about their medical and behavioral history.\n\nParticipation will last for several years.",[471,472,473,474],"Smith Lemli Opitz Syndrome","CHILD Syndrome","Lathosterolosis","Desmosterolosis",[476,477,478,68],"7-dehydrocholesterol reductase","7-dehydrocholesterol","cholesterol deficiency","2026-06-06",{"date":481,"type":36},"2026-06-09",{"date":483,"type":36},"2021-06-23",{"date":485,"type":21},"2031-05-31",{"name":42,"class":43},{"id":488,"slug":489,"hasResults":11,"nctId":490,"briefTitle":491,"officialTitle":491,"acronym":4,"eligibilityCriteria":492,"healthyVolunteers":11,"sex":493,"minAge":193,"maxAge":494,"enrollmentInfo":495,"targetDuration":4,"studyType":57,"phases":4,"briefSummary":497,"conditions":498,"keywords":501,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":504,"lastUpdatePostDateStruct":505,"startDateStruct":507,"completionDateStruct":509,"leadSponsor":511,"locationsCount":44},"100485428","characterization-of-dysmorphology-in-subjects-with-creatine-transporter-deficiency-100485428","NCT05600946","Characterization of Dysmorphology in Subjects With Creatine Transporter Deficiency","* INCLUSION CRITERIA:\n\n  1. Patient is male and between 2-40 years of age, inclusive.\n  2. Patient has genomic confirmation of a pathologic mutation in the SLC6A8 gene.\n  3. Patient is able to complete study-related procedures within limitations imposed by condition under study.\n  4. Patients parents\u002Fguardians\u002Fcaregivers must provide written consent (informed consent) to study-related procedures, and if appropriate, the patient will provide an assent.\n\nEXCLUSION CRITERIA:\n\n1. Patient has had status epilepticus within 3 months of screening.\n2. Patients has had a seizure that lasts 5 minutes or longer, and a second seizure without recovering consciousness from the first one, or if a person has repeated seizures for 30 minutes or longer.\n3. Patient is unable to comply with the study procedures or has a clinical disease or laboratory abnormality that in the opinion of the investigator would potentially increase the risk of participation.","MALE","40 Years",{"count":496,"type":21},19,"Background:\n\nCreatine transporter deficiency (CTD) is a genetic disorder that mainly affects the brain in males. CTD causes intellectual disability that can be mild to severe. People with CTD may have seizures and behavioral issues. They may have slow growth and tire easily. CTD may sometimes be confused with autism or other disorders. Better diagnostics are needed. The study team in an NIH study noted that the faces of children with CTD can look similar. For this natural history study, an expert will examine photos of children with CTD. Any shared traits found might help to diagnose CTD.\n\nObjective:\n\nTo look for shared facial features of children with CTD.\n\nEligibility: Males aged 2 to 40 years old with CTD who were in study 17-CH-0020.\n\nDesign:\n\nSome participants in study 17-CH-0020 had pictures taken of their faces. The NIH study team wants to share these photos with a colleague in Canada. This person is an expert at evaluating how genetic disorders affect people s bodies.\n\nParticipant data collected during the study may also be sent to this expert. This data may include diagnostic images and results from lab tests.\n\nSome children did not have their pictures taken during study 17-CH-0020. Parents are asked to take pictures of these children and send them to the study team. These photos can be sent to a secure portal. The photos can also be taken in-person during a clinic visit.\n\nThe photos may be printed in clinical study journals. But this is not required. Parents will be asked to sign a separate consent before the photos are published....",[499,252,500],"Cognitive Disorder","Autism Spectrum Disorder",[502,500,503,68],"Developmental Delay","Children","2026-06-03",{"date":506,"type":36},"2026-06-04",{"date":508,"type":36},"2022-10-24",{"date":510,"type":21},"2026-09-01",{"name":42,"class":43},{"id":513,"slug":514,"hasResults":11,"nctId":515,"briefTitle":516,"officialTitle":516,"acronym":4,"eligibilityCriteria":517,"healthyVolunteers":15,"sex":52,"minAge":518,"maxAge":519,"enrollmentInfo":520,"targetDuration":4,"studyType":57,"phases":4,"briefSummary":521,"conditions":522,"keywords":523,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":528,"lastUpdatePostDateStruct":529,"startDateStruct":531,"completionDateStruct":533,"leadSponsor":535,"locationsCount":44},"100309359","mirror-neuron-network-dysfunction-as-an-early-biomarker-of-neurodevelopmental-disorder-100309359","NCT03307317","Mirror Neuron Network Dysfunction as an Early Biomarker of Neurodevelopmental Disorder","* INCLUSION CRITIERIA:\n\nHealthy adults\n\n* Age of 18-65 at study entry\n* Healthy and good condition as determined by medical history and physical examination\n\nHealthy Infants\n\n* 9 months +\u002F- 2 weeks of age at time of consent\n* Healthy and good condition as determined by medical history and physical examination\n* Age appropriate development as determined by parent report and exam\n* Full term at birth\n* Normal weight for gestational age\n\nAt Risk Infants\n\n* 12 months +\u002F- 2 weeks at the time of consent\n* Must have at least one of the following: observed developmental delay; sibling of a child with autism; premature birth; small for gestational age\n\nEXCLUSION CRITERIA:\n\nHealthy Adults\n\n* Uncorrected auditory impairment\n* Uncorrected visual impairment\n* Head injury with loss of consciousness\n* Inability to provide consent\n* Subject has a condition, that in the opinion of the investigator, creates an unacceptable risk for participation\n\nHealthy and At-Risk Infants\n\n* A language other than English as the primary language spoken at home\n* Having a medical impairment that interferes with study participation such as having a g-tube, shunt or seizure disorder and inability to hold one s head upright\n* Having a known visual impairment\n* Having a known auditory impairment","9 Months","65 Years",{"count":196,"type":21},"Background:\n\nPeople show changes in brain activity when they watch other people do actions. This may be part of early social and communication skills. Researchers want to understand the stages of normal development of motor observation and imitation in people and how it relates to social development in infants and toddlers.\n\nObjective:\n\nTo study the nature of brain activity that underlies typical brain functioning in infants, toddlers, and adults.\n\nEligibility:\n\nInfants ages 8 12 months\n\nHealthy adults ages 18 65\n\nDesign:\n\nAdult participants will have one visit. They will:\n\nAnswer questions about their family, like its size and ethnicity.\n\nAnswer questions about their own behavior and do a simple motor task.\n\nHave EEG\u002FfNIRS. A damp elastic cap with small sensors will be placed on the head. Participants will observe stimuli, either on a video screen or of a live person. The sensors will be connected to a computer. That will record the participant s brain activity while watching pictures on a screen.\n\nInfant participants will have 2 visits.\n\nTheir parents will answer questions about their family.\n\nThe parents will fill out forms about their child s development. These will be mailed to them before each visit.\n\nParents will stay with their infant while study staff does an assessment of the child s communication, motor, and thinking skills.\n\nInfants will have EEG\u002FfNIRS.\n\nInfants who are at risk for developmental delays will come back for another visit when they are about 2 years old. This will repeat the infant visits but it will not include EEG\u002FfNIRS.\n\nSome questionnaires and assessments will be videotaped.",[502],[524,525,526,527,68],"Near Infrared Spectroscopy","EEG","Functional Brain Activity","Neurodevelopment","2026-05-28",{"date":530,"type":36},"2026-05-29",{"date":532,"type":36},"2018-08-30",{"date":534,"type":21},"2031-02-01",{"name":42,"class":43},{"id":537,"slug":538,"hasResults":11,"nctId":539,"briefTitle":540,"officialTitle":540,"acronym":4,"eligibilityCriteria":541,"healthyVolunteers":11,"sex":52,"minAge":81,"maxAge":542,"enrollmentInfo":543,"targetDuration":4,"studyType":57,"phases":4,"briefSummary":545,"conditions":546,"keywords":547,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":549,"lastUpdatePostDateStruct":550,"startDateStruct":552,"completionDateStruct":554,"leadSponsor":556,"locationsCount":44},"100631584","turner-syndrome-genetic-considerations-100631584","NCT07502586","Turner Syndrome: Genetic Considerations","* INCLUSION CRITERIA:\n\n  1. Turner syndrome diagnosis based on karyotype\n  2. Any age\n  3. Biological parent of Turner syndrome patient\n  4. Relatives of Turner syndrome patient\n  5. The subject from protocol 20CH0126 will enroll in this study only when they agree to be referred to the 17I0122 NIAID study. They can withdraw participation in the 17I0122 study if they do not want to have their genetic data in this database\n\nEXCLUSION CRITERIA:\n\n1\\. Diagnosis other than Turner syndrome","110 Years",{"count":544,"type":21},500,"Background:\n\nTurner syndrome (TS) is a rare genetic condition. It happens when a person is born missing all or part of an X sex chromosome. People with TS can have heart defects, short stature, autoimmune conditions, and malformations. Many women with TS never have periods and cannot conceive; however, some women have normal ovaries (egg cells). Researchers want to learn more about why some women with TS are fertile and others are not. To do this, they need to be able to compare the genes of many women who have TS.\n\nObjective:\n\nTo create a genetic database of people with TS.\n\nEligibility:\n\nPeople of any age with TS. Biological parents and other relatives are also needed.\n\nDesign:\n\nParticipants who agree to join this study will be asked to enroll in a second study; that study is called NIAID Centralized Sequencing Protocol (Protocol No. 17I0122).\n\nParticipants will have 1 study visit. They may fill out a survey or do an interview. They will provide blood, saliva, or other tissue samples. Those samples will be used for genetic tests. The visit will take 1 hour.\n\nThe information collected in those tests will be collected for use in the database created as part of this study.",[371],[548],"Gynecology disorder","2026-05-12",{"date":551,"type":36},"2026-05-13",{"date":553,"type":36},"2026-03-24",{"date":555,"type":21},"2028-08-31",{"name":42,"class":43},{"id":558,"slug":559,"hasResults":11,"nctId":560,"briefTitle":561,"officialTitle":561,"acronym":4,"eligibilityCriteria":562,"healthyVolunteers":15,"sex":52,"minAge":81,"maxAge":54,"enrollmentInfo":563,"targetDuration":4,"studyType":57,"phases":4,"briefSummary":565,"conditions":566,"keywords":571,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":576,"lastUpdatePostDateStruct":577,"startDateStruct":579,"completionDateStruct":581,"leadSponsor":583,"locationsCount":44},"100417566","data-collection-study-of-pediatric-and-adolescent-gynecology-conditions-100417566","NCT04717349","Data Collection Study of Pediatric and Adolescent Gynecology Conditions","* INCLUSION CRITERIA FOR PAG PATIENTS:\n\n  1. Provision of signed and dated informed consent form.\n  2. Stated willingness to comply with all study procedures and availability for the duration of the study.\n  3. Participants with known or suspected pediatric and adolescent gynecologic conditions of any age are eligible for this protocol.\n\nINCLUSION CRITERIA FOR PAG PATIENTS OF FAMILY MEMBERS:\n\n1. Provision of signed and dated informed consent form.\n2. Stated willingness to comply with all study procedures and availability for the duration of the study.\n3. In order to be eligible to participate in this study, an individual must meet all of the following criteria: Relatives ages 18 years and older may be enrolled if clinically indicated for the diagnosis of a proband.\n\nEXCLUSION CRITERIA:\n\nAn individual who meets any of the following criteria will be excluded from participation in this study:\n\n1. Any medical, physical, psychiatric, or social conditions, which, in the opinion of the investigators, would make participation in this protocol not in the best interest of the patient, will exclude participation. Patients who are critically ill, unstable, or with severe organ failure that may affect\u002Flimit the evaluation and place unsustainable demands on Clinical Center or NICHD resources will be excluded.\n2. Pregnant family members",{"count":564,"type":21},11000,"Background:\n\nGynecologic conditions are those that are related to the reproductive system. They can be reproductive gland disorders or reproductive system tumors. They can also be inborn anomalies of the reproductive tract. Researchers want to gather data over time from a large group of young people with these conditions.\n\nObjective:\n\nTo create a database about child and teenage gynecologic conditions.\n\nEligibility:\n\nParticipants of any age with known or suspected pediatric and adolescent gynecologic conditions, and their adult family members\n\nDesign:\n\nParticipants will be screened with a review of their medical records.\n\nParticipants may have a medical history and physical exam.\n\nParticipants will have blood drawn using a needle. The blood will be used for genetic tests.\n\nParticipants will have saliva collected. They will spit into a small plastic container. Or their spit will be absorbed from their mouth using a small sponge. The saliva will be used for genetic tests.\n\nParticipants may have samples collected from their vagina. A small cotton swab will be used to gather the samples. This procedure is optional.\n\nIf participants have a surgery related to their condition, a small tissue sample will be taken. It will be stored for future research.\n\nParticipants may complete optional surveys. These surveys ask about their physical and emotional health. They can choose not to answer any of the questions.\n\nResearchers will collect medical data from participants standard tests. Such tests may include blood and urine tests, X-rays, nuclear medicine scans, and other tests. Data will also be collected from standard treatments they may receive.",[567,568,569,570],"Disorders of Sex Development (DSD)","Pediatric and Adolescent Cancers of the Genital Tract","Reproductive Endocrine Conditions in Puberty","Structural Gynecologic Conditions Including Vulvar and Vaginal Conditions",[572,573,574,575,68],"Congenital Anomalies","Disorders of sex development (DSD)","Childhood and adolescence cancers","Adolescent fertility","2026-04-30",{"date":578,"type":36},"2026-05-01",{"date":580,"type":36},"2021-04-21",{"date":582,"type":21},"2039-12-02",{"name":42,"class":43},{"id":585,"slug":586,"hasResults":11,"nctId":587,"briefTitle":588,"officialTitle":589,"acronym":4,"eligibilityCriteria":590,"healthyVolunteers":11,"sex":52,"minAge":591,"maxAge":54,"enrollmentInfo":592,"targetDuration":4,"studyType":57,"phases":4,"briefSummary":593,"conditions":594,"keywords":598,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":605,"lastUpdatePostDateStruct":606,"startDateStruct":608,"completionDateStruct":610,"leadSponsor":612,"locationsCount":128},"100620444","identifying-genome-variants-in-non-obstructive-azoospermia-noa-or-primary-ovarian-insufficiency-poi-100620444","NCT07357701","Identifying Genome Variants in Non-Obstructive Azoospermia (NOA) or Primary Ovarian Insufficiency (POI)","Identifying Genome Variants and Evaluating PRDM9 and piRNA Clusters as Candidates for Infertility in a Cohort of Individuals With Non-Obstructive Azoospermia (NOA) or Primary Ovarian Insufficiency (POI)","* INCLUSION CRITERIA:\n\nIn order to be eligible to participate in this study, an individual must meet all of the following criteria:\n\n1. Provision of signed and dated informed consent form\n2. Stated willingness to comply with all study procedures and availability for the duration of the study\n3. Adult male or female, of reproductive age\n4. Clinical diagnosis of NOA, oligospermia, or POI.\n5. In good general health with no medical history suspected as the cause of infertility.\n\nEXCLUSION CRITERIA:\n\nAn individual who meets any of the following criteria will be excluded from participation in this study:\n\n1. Current use of medications that may cause infertility (chemotherapy, etc.)\n2. Pregnant or lactating\n3. Medical history indicating known common cause of infertility such as karyotype anomalies, Y-chromosome microdeletions, known monogenic causes, or other medical history affecting gamete production (i.e. injuries, surgical operations, infections, radiation, or chemotherapy).","18 Years",{"count":544,"type":21},"Background:\n\nInfertility affects 1 in 6 people. Often, the causes of infertility are unknown. Treatments are successful in only about 50% of cases. Infertility caused by non obstructive azoospermia in males and primary ovarian insufficiency in females can have genetic causes. Researchers want to learn more about these genes.\n\nObjective:\n\nTo identify genes that may cause infertility.\n\nEligibility:\n\nAdult men and women with non-obstructive azoospermia (NOA) or primary ovarian insufficiency (POI) of unknown cause.\n\nDesign:\n\nParticipants will provide a saliva sample. A kit will be sent to their home. The kit will contain a collection tube and a cotton swab. They will swirl the swab inside their mouth and then seal it in the tube. They will mail the tube back to the researchers.\n\nMale participants who are having a procedure done to collect tissue from their testes may opt to have leftover tissue provided to study researchers. This tissue would otherwise have been discarded. No new procedures will be performed just for this study.\n\nData may be collected from participants medical records.",[595,596,597],"Primary Ovarian Insufficiency","Azoospermia","Oligospermia",[599,600,27,601,602,603,604,595,275],"NOA","POI","oligospermia","azoospermia","diminished ovarian reserve","nonobstructive azoospermia","2026-03-13",{"date":607,"type":36},"2026-03-16",{"date":609,"type":36},"2026-03-11",{"date":611,"type":21},"2031-01-01",{"name":42,"class":43},{"id":614,"slug":615,"hasResults":11,"nctId":616,"briefTitle":617,"officialTitle":618,"acronym":4,"eligibilityCriteria":619,"healthyVolunteers":11,"sex":52,"minAge":136,"maxAge":54,"enrollmentInfo":620,"targetDuration":4,"studyType":57,"phases":4,"briefSummary":622,"conditions":623,"keywords":626,"overallStatus":32,"whyStopped":4,"lastUpdateSubmitDate":629,"lastUpdatePostDateStruct":630,"startDateStruct":632,"completionDateStruct":634,"leadSponsor":636,"locationsCount":44},"100309358","investigations-of-juvenile-neuronal-ceroid-lipofuscinosis-100309358","NCT03307304","Investigations of Juvenile Neuronal Ceroid Lipofuscinosis","Investigations of Juvenile Neuronal Ceroid Lipofuscinosis (CLN3) and CLN3-Related Conditions","* INCLUSION CRITERIA:\n\nFor the Main and Sub-Studies, participants \\> 1 week of age, of all genders, demographics, geographic locations, and disease severity will be recruited in order to obtain cross-sectional representation of CLN3-related conditions (Main and Sub-Studies) or all NCLs (Sub-Study B). Participants in the Main study will be followed at approximately yearly intervals to obtain longitudinal data. Participants in Sub-Study A may elect to send in medical records and samples only, or to come to the NIH for evaluations as outlined in Section 4. We anticipate that\n\nparticipants in Sub-Study B will be seen mostly at NCL\u002FCLN3-related family conferences.\n\nMain Study:\n\nIndividuals \\> 1 week of age with a diagnosis of CLN3 or a CLN3-related\u002Fother NCL-type condition. Diagnosis determined by one of the following:\n\n1. Two CLN3 or NCL condition-appropriate genetic mutations\n2. One CLN3 mutation AND\n\ni) clinical presentation suggestive of CLN3, OR\n\nii) characteristic electron microscopy (EM) findings (such as curvilinear body, fingerprint profile, granular osmiophilic deposits).\n\nSub-Study A:\n\nIndividuals \\> 1 week of age with a diagnosis of CLN3 or CLN3-related\u002Fother NCL-type condition. Diagnosis determined by one of the following:\n\n1. Two CLN3 or condition-appropriate genetic mutations\n2. One CLN3 mutation AND\n\ni) clinical presentation suggestive of CLN3, OR\n\nii) characteristic electron microscopy (EM) findings (such as curvilinear body, fingerprint profile, granular osmiophilic deposits).\n\nOR\n\nIndividuals \\> 1 month of age who have family member(s) diagnosed with CLN3 or CLN3-related\u002Fother NCL-type condition.\n\nSub-Study B:\n\nIndividuals \\> 1 week of age with a clinical diagnosis of CLN3 or NCL.\n\nOR\n\nIndividuals \\> 1 month of age who have family member(s) diagnosed with CLN3 or NCL.\n\nEXCLUSION CRITERIA:\n\nMain Study:\n\n1. Individuals who cannot travel to the NIH because of their medical condition.\n2. Individuals who, in the opinion of the Investigator, are unable to comply with the protocol or have medical conditions that would potentially increase the risk of participation.\n3. Females who are pregnant.\n\nSub-Studies A and B:\n\n1. Unaffected individuals \\> 18 years of age who have cognitive impairments.\n2. Individuals who, in the opinion of the Investigator, are unable to comply with the protocol or have medical conditions that would potentially increase the risk of participation.",{"count":621,"type":21},300,"Background:\n\nCLN3, or Batten disease, is a genetic disorder. This deadly disease leads to decline of brain and nervous system functions. Symptoms of CLN3 typically occur between 4 and 7 years of age. They include changes in how a person sees, thinks, and moves. CLN3 can also cause seizures. No effective treatments for the disease are yet known. There is limited testing of potential therapies. Researchers want to study CLN3 more so they can improve future therapies.\n\nObjective:\n\nTo identify clinical or biochemical markers that can be used as therapeutic outcome measures for CLN3.\n\nEligibility:\n\nPeople with CLN3. It must be based on\n\nTwo CLN3 mutations OR\n\nOne CLN3 mutation AND findings seen with a powerful microscope\n\nFamily members of a person with CLN3.\n\nDesign:\n\nParticipants will have already been referred to NIH for CLN3 evaluation.\n\nIf participants agree to do the study, they will:\n\n1. give spinal fluid, blood, urine, and skin samples. They may provide other samples if they were already collected. These may include cells, surgical specimens, and DNA.\n2. will be seen by multiple healthcare specialists.\n\nParticipants may provide medical records or photos. Participants will sign a release of medical records form.P\n\nResearchers may send samples or clinical data to other investigators. For research testing, the samples will not include the participant s name. For a test in a clinical lab, researchers will include the participant s name. These results will become part of the clinical record at NIH.",[624,625],"Juvenile Neuronal Ceroid Lipofuscinosis (CLN3)","Batten Disease",[625,627,89,90,628,68],"Neurodegenerative","Longitudinal Study","2026-02-21",{"date":631,"type":36},"2026-02-24",{"date":633,"type":36},"2017-11-27",{"date":635,"type":21},"2050-12-31",{"name":42,"class":43},""]